ClinVar Miner

List of variants reported as likely pathogenic for achromatopsia by Sharon lab,Hadassah-Hebrew University Medical Center

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_001079878.2(CNGA3):c.1252C>T (p.Arg418Trp) rs104893621
NM_001079878.2(CNGA3):c.1564G>A (p.Val522Ile) rs116448158
NM_001079878.2(CNGA3):c.628G>A (p.Glu210Lys) rs147415641
NM_001079878.2(CNGA3):c.757C>G (p.Pro253Ala) rs149802213
NM_001079878.2(CNGA3):c.794G>A (p.Arg265Gln) rs104893614
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg)
NM_001298.3(CNGA3):c.904A>G (p.Arg302Gly)
NM_006204.4(PDE6C):c.1595T>G (p.Ile532Arg)
NM_019098.4(CNGB3):c.467C>T (p.Ser156Phe) rs139207764
NM_019098.4(CNGB3):c.782A>G (p.Asp261Gly)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.